HGVS | Genome Assembly |
---|---|
NC_000005.10:g.151100880G= , CM000667.2:g.151100880G= | GRCh38 |
NC_000005.9:g.150480441G= , CM000667.1:g.150480441G= | GRCh37 |
NC_000005.8:g.150460634G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000354546.10:c.*568C= MANE Select | ENSP00000346550.5:n.*568C= | |
ENST00000522664.5:c.283C= | ||
NM_001155.4:c.*568C= | NP_001146.2:n.*568C= | |
NM_001193544.1:c.*568C= | NP_001180473.1:n.*568C= | |
NM_001363114.1:c.*568C= | NP_001350043.1:n.*568C= | |
NM_001155.5:c.*568C= MANE Select | NP_001146.2:n.*568C= | |
NM_001193544.2:c.*568C= | NP_001180473.1:n.*568C= | |
NM_001363114.2:c.*568C= | NP_001350043.1:n.*568C= |